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Noncoding deletions reveal a gene that is critical for intestinal function.
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on human chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital diarrhoea in infants1,2. Reporter assays in transgenic mice show that the ICR contains a regulatory sequence that activates transcription during the development of the gastrointestinal system. Targeted deletion of the ICR in mice caused symptoms that recapitulated the human condition. Transcriptome analysis revealed that an unannotated open reading frame (Percc1) flanks the regulatory sequence, and the expression of this gene was lost in the developing gut of mice that lacked the ICR. Percc1-knockout mice displayed phenotypes similar to those observed upon ICR deletion in mice and patients, whereas an ICR-driven Percc1 transgene was sufficient to rescue the phenotypes found in mice that lacked the ICR. Together, our results identify a gene that is critical for intestinal function and underscore the need for targeted in vivo studies to interpret the growing number of clinical genetic findings that do not affect known protein-coding genes
Risk of Recurrent Pregnancy Loss in the Ukrainian Population Using a Combined Effect of Genetic Variants: A Case-Control Study
We assessed the predictive ability of a combined genetic variant panel for the risk of recurrent pregnancy loss (RPL) through a case-control study. Our study sample was from Ukraine and included 114 cases with idiopathic RPL and 106 controls without any pregnancy losses/complications and with at least one healthy child. We genotyped variants within 12 genetic loci reflecting the main biological pathways involved in pregnancy maintenance: blood coagulation (F2, F5, F7, GP1A), hormonal regulation (ESR1, ADRB2), endometrium and placental function (ENOS, ACE), folate metabolism (MTHFR) and inflammatory response (IL6, IL8, IL10). We showed that a genetic risk score (GRS) calculated from the 12 variants was associated with an increased risk of RPL (odds ratio 1.56, 95% CI: 1.21, 2.04, p = 8.7 × 10−4). The receiver operator characteristic (ROC) analysis resulted in an area under the curve (AUC) of 0.64 (95% CI: 0.57, 0.72), indicating an improved ability of the GRS to classify women with and without RPL. Ιmplementation of the GRS approach can help define women at higher risk of complex multifactorial conditions such as RPL. Future well-powered genome-wide association studies will help in dissecting biological pathways previously unknown for RPL and further improve the identification of women with RPL susceptibility
Additional file 5: Table S7. of The human olfactory transcriptome
Expression profile of the OR repertoire. (XLSX 161 kb
Additional file 4: Table S6. of The human olfactory transcriptome
Expression of the lipocalin family members. Mouse was calculated relative to Mouse ENCODE data ( http://chromosome.sdsc.edu/mouse/download.html ), see methods. (XLSX 14 kb
Sciaphila japonica Makino
原著和名: ホンガウサウ科名: ホンゴウソウ科 = Triuridaceae採集地: 高知県 土佐清水市 (土佐 土佐清水市)採集日: 1978/8/19採集者: 萩庭丈壽整理番号: JH009346国立科学博物館整理番号: TNS-VS-95934
Additional file 2: Table S2. of The human olfactory transcriptome
Whole genome expression of the studied samples (in FPKM). FC_OE, the fold change of the human olfactory epithelium relative to the controls; FC_resp, the fold change of the human respiratory epithelium relative to the controls; FC_MOE, the fold change of mouse olfactory epithelium relative to the controls, FC_MOB, the fold change of mouse olfactory bulb relative to the controls. NoOrth- no mouse ortholog. OSN- olfactory sensory neurons in RPM (reads per million). (XLSX 22311 kb